Regie Lyn P Santos-Cortez (Suzanne M Leal, Suzanne Leal)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 23

Top Venues

European journal of human genetics : EJHG

BioMed research international

Human genetics

Molecular genetics & genomic medicine

Columbia University

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Columbia University Feb 15 2019

United States

Sergievsky Family Professor of Neurological Sciences/Director Center for Statistical Genetics :: Neurology

Publications

Abrar Hussain, Anushree Acharya, Thashi Bharadwaj, University Of Washington Center For Mendelian Genomics, Regie Lyn P Santos-Cortez, Abdul Khaliq, Asif Mir, Isabelle Schrauwen
A Novel Variant in VPS13B Underlying Cohen Syndrome. BioMed research international 2023 (2023)
Muhammad Bilal, Hammal Khan, Muhammad Javed Khan, Tobias B Haack, Rebecca Buchert, Khurram Liaqat, Kifayat Ullah, Sohail Ahmed, Thashi Bharadwaj, Anushree Acharya, Susana Peralta, null Najumuddin, Hamid Ali, Muhammad Sharif Hasni, Isabelle Schrauwen, Asmat Ullah, Wasim Ahmad, Regie Lyn P Santos-Cortez
Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly. European journal of human genetics : EJHG (2023)
Abrar Hussain, Anushree Acharya, Thashi Bharadwaj, University Of Washington Center For Mendelian Genomics, Regie Lyn P Santos-Cortez, Abdul Khaliq, Asif Mir, Isabelle Schrauwen
A Novel Variant in VPS13B Underlying Cohen Syndrome. BioMed research international 2023 (2023)
Abrar Hussain, Anushree Acharya, Thashi Bharadwaj, University Of Washington Center For Mendelian Genomics, Regie Lyn P Santos-Cortez, Abdul Khaliq, Asif Mir, Isabelle Schrauwen
A Novel Variant in VPS13B Underlying Cohen Syndrome. BioMed research international 2023 (2023)
Ghislaine Jumonville, David Hong, Atlas Khan, Andrew Thomas DeWan, Regie Lyn P Santos-Cortez, Chunhua Weng, Lynn Petukhova
Digital biobanks are underutilized in dermatology and create opportunities to reduce the burden of skin disease. The British journal of dermatology (2023)
Madiha Amin Malik, Muhammad Arif Nadeem Saqib, Edwin Mientjes, Anushree Acharya, Muhammad Rizwan Alam, Ilse Wallaard, Isabelle Schrauwen, Michael J Bamshad, Regie Lyn P Santos-Cortez, Ype Elgersma, Regie Lyn P Santos-Cortez, Muhammad Ansar
A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome. European journal of human genetics : EJHG (2023)
Abrar Hussain, Anushree Acharya, Thashi Bharadwaj, University Of Washington Center For Mendelian Genomics, Regie Lyn P Santos-Cortez, Abdul Khaliq, Asif Mir, Isabelle Schrauwen
A Novel Variant in VPS13B Underlying Cohen Syndrome. BioMed research international 2023 (2023)
Diana M Cornejo-Sanchez, Guangyou Li, Tabassum Fabiha, Ran Wang, Anushree Acharya, Jenna L Everard, Magda K Kadlubowska, Yin Huang, Isabelle Schrauwen, Gao T Wang, Andrew T DeWan, Regie Lyn P Santos-Cortez
Rare-variant association analysis reveals known and new age-related hearing loss genes. European journal of human genetics : EJHG (2023)
Diana M Cornejo-Sanchez, Guangyou Li, Tabassum Fabiha, Ran Wang, Anushree Acharya, Jenna L Everard, Magda K Kadlubowska, Yin Huang, Isabelle Schrauwen, Gao T Wang, Andrew T DeWan, Regie Lyn P Santos-Cortez
Rare-variant association analysis reveals known and new age-related hearing loss genes. European journal of human genetics : EJHG (2023)
Rabia Faridi, Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy E Turriff, Keith Pelstring, Bin Guan, Amelia Naik, Andrew J Griffith, Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Gordon Akanzuwine Awandare, Robert J Morell, Ekaterini Tsilou, Amanda G Noyes, Laura Anne Goodell Sulmonte, Ambroise Wonkam, Isabelle Schrauwen, Regie Lyn P Santos-Cortez, Hela Azaiez, Carmen C Brewer, Sheikh Riazuddin, Robert B Hufnagel, Michael Hoa, Wadih M Zein, J Karl de Dios, Thomas B Friedman
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clinical genetics (2023)
Isabelle Schrauwen, Amama Ghaffar, Thashi Bharadwaj, Khadim Shah, Sakina Rehman, Anushree Acharya, Khurram Liaqat, Nicole S Lin, Jenna L Everard, Anwar Khan, Zubair M Ahmed, Wasim Ahmad, Saima Riazuddin, Regie Lyn P Santos-Cortez
Syntaxin 4 is essential for hearing in human and zebrafish. Human molecular genetics (2022)
Thashi Bharadwaj, Isabelle Schrauwen, Anushree Acharya, Liz M Nouel Saied, Marja-Leena Väisänen, Minna Kraatari, Elisa Rahikkala, Irma Jarvela, Jouko Kotimäki, Regie Lyn P Santos-Cortez
Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant. Molecular genetics & genomic medicine 10 (3) (2022)
Anushree Acharya, Syed Irfan Raza, Muhammad Zeeshan Anwar, Thashi Bharadwaj, Khurram Liaqat, Muhammad Akram Shahzad Khokhar, Jenna L Everard, Abdul Nasir, null null, Deborah A Nickerson, Michael J Bamshad, Muhammad Ansar, Isabelle Schrauwen, Wasim Ahmad, Regie Lyn P Santos-Cortez
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13. Journal of human genetics 66 (10) (2021)
Samuel M Adadey, Isabelle Schrauwen, Elvis Twumasi Aboagye, Thashi Bharadwaj, Kevin Kum Esoh, Sulman Basit, Anushree Acharya, Liz M Nouel-Saied, Khurram Liaqat, Edmond Wonkam-Tingang, Shaheen Mowla, Gordon A Awandare, Wasim Ahmad, Regie Lyn P Santos-Cortez, Ambroise Wonkam
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment. Journal of human genetics 66 (12) (2021)
Adebolajo A Adeyemo, Rabia Faridi, Parna Chattaraj, Rizwan Yousaf, Risa Tona, Samuel Okorie, Thashi Bharadwaj, Liz M Nouel-Saied, Anushree Acharya, Isabelle Schrauwen, Robert J Morell, Regie Lyn P Santos-Cortez, Thomas B Friedman, Andrew J Griffith, Isabelle Roux
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. European journal of human genetics : EJHG (2021)
Thashi Bharadwaj, Isabelle Schrauwen, Sakina Rehman, Khurram Liaqat, Anushree Acharya, Arnaud P J Giese, Liz M Nouel-Saied, Abdul Nasir, Jenna L Everard, Lana M Pollock, Shaoyuan Zhu, Michael J Bamshad, Deborah A Nickerson, Raja Hussain Ali, Asmat Ullah, Abdul Wali, Ghazanfar Ali, Regie Lyn P Santos-Cortez, Zubair M Ahmed, Brian M McDermott, Muhammad Ansar, Saima Riazuddin, Wasim Ahmad, Regie Lyn P Santos-Cortez
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment. European journal of human genetics : EJHG (2021)
Hannaleena Kokkonen, Auli Siren, Tuomo Määttä, Magda Kamila Kadlubowska, Anushree Acharya, Liz M Nouel-Saied, Regie Lyn P Santos-Cortez, Irma Järvelä, Isabelle Schrauwen
Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders. Molecular genetics & genomic medicine (2021)
Anushree Acharya, Isabelle Schrauwen, Regie Lyn P Santos-Cortez
Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future. Human genetics (2021)
Irma Järvelä, Tuomo Määttä, Anushree Acharya, Juha Leppälä, Shalini N Jhangiani, Maria Arvio, Auli Siren, Minna Kankuri-Tammilehto, Hannaleena Kokkonen, Maarit Palomäki, Teppo Varilo, Mary Fang, Trevor D Hadley, Angad Jolly, Tarja Linnankivi, Ritva Paetau, Anni Saarela, Reetta Kälviäinen, Jan Olme, Liz M Nouel-Saied, Diana M Cornejo-Sanchez, Lorida Llaci, James R. Lupski, Jennifer E Posey, Regie Lyn P Santos-Cortez, Isabelle Schrauwen
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. Human genetics 140 (7) (2021)
Linhai Zhao, Zhihui Zhang, Sandra M Barral Rodriguez, Badri N Vardarajan, Alan E Renton, Alison Mary Goate, Richard Mayeux, Gao T Wang, Regie Lyn P Santos-Cortez
A quantitative trait rare variant nonparametric linkage method with application to age-at-onset of Alzheimer's disease. European journal of human genetics : EJHG 28 (12) (2020)
Irfan Ullah, Naseebullah Kakar, Isabelle Schrauwen, Shabir Hussain, Imen Chakchouk, Khurram Liaqat, Anushree Acharya, Naveed Wasif, Regie Lyn P Santos-Cortez, Saadullah Khan, Abdul Aziz, Kwanghyuk Lee, Julien Couthouis, Denise Horn, Bjørt K Kragesteen, Malte Spielmann, Holger Thiele, Deborah A Nickerson, Michael J Bamshad, Aaron D Gitler, Jamil Ahmad, Muhammad Ansar, Guntram Borck, Wasim Ahmad, Regie Lyn P Santos-Cortez
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Human genetics 138 (6) (2019)
Elodie M Richard, Regie Lyn P Santos-Cortez, Rabia Faridi, Atteeq U Rehman, Kwanghyuk Lee, Mohsin Shahzad, Anushree Acharya, Asma A Khan, Ayesha Imtiaz, Imen Chakchouk, Christina Takla, Izoduwa Abbe, Maria Rafeeq, Khurram Liaqat, Taimur Chaudhry, Michael J Bamshad, Deborah A Nickerson, null null, Isabelle Schrauwen, Shaheen N Khan, Robert J Morell, Saba Zafar, Muhammad Ansar, Zubair M Ahmed, Wasim Ahmad, Sheikh Riazuddin, Thomas B Friedman, Regie Lyn P Santos-Cortez, Saima Riazuddin
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Human mutation 40 (1) (2018)
Regie Lyn P Santos-Cortez, Valeed Khan, Falak Sher Khan, Zaib-Un-Nisa Mughal, Imen Chakchouk, Kwanghyuk Lee, Memoona Rasheed, Rifat Hamza, Anushree Acharya, Ehsan Ullah, Muhammad Arif Nadeem Saqib, Izoduwa Abbe, Ghazanfar Ali, Muhammad Jawad Hassan, Saadullah Khan, Zahid Azeem, Irfan Ullah, Michael J Bamshad, Deborah A Nickerson, Isabelle Schrauwen, Wasim Ahmad, Muhammad Ansar, Suzanne M Leal
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. Human genetics 137 (9) (2018)

Regie Lyn P Santos-Cortez.css-eqlu8i{font-size:small;padding-left:4px;} (Suzanne M Leal, Suzanne Leal)

Publication Activity (10 Years)

Top Topics

Top Venues

Regie Lyn P Santos-Cortez (Suzanne M Leal, Suzanne Leal)